A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712493



Internal ID21738814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60668186..60668186hg38UCSC Ensembl
chr8:61580745..61580745hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17225818, nssv17183598
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5712493
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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